Friedreich’s Ataxia Presenting as Isolated Spastic Paraparesis
نویسندگان
چکیده
منابع مشابه
Phenylketonuria presenting in adulthood as progressive spastic paraparesis with dementia.
A 57 year old woman living independently in the community presented with four years of progressive spastic paraparesis and dementia. An extensive evaluation for the usual causes of these difficulties was unrevealing, but her serum phenylalanine concentration was markedly elevated and genetic analysis demonstrated mutations in the phenylalanine hydroxylase gene consistent with classic phenylketo...
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Department of Neurology and Department of Internal Medicine, Division of Neuroradiology, School of Medicine at Ribeirão Preto, University of São Paulo, Ribeirão Preto SP, Brazil; Department of Neurology, School of Medicine, Federal University of Ceara, Fortaleza CE, Brazil. This study was supported by grants from CNPq (Conselho Nacional de Pesquisa) and FAEPA (Fundação de Apoio ao Ensino, Pesqu...
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The aims of this study were to: (1) evaluate the perceptual speech dimensions, speech intelligibility and dys arthria severity of a group of individuals diagnosed with Friedreich’s ataxia (FRDA); (2) determine the presence of subgroups within FRDA dysarthria; (3) investigate the relationship between the speech outcome and the clinical factors of disease progression. The study included 38 indivi...
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ژورنال
عنوان ژورنال: Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques
سال: 2014
ISSN: 0317-1671,2057-0155
DOI: 10.1017/cjn.2014.28